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NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003482283.2

Allele description [Variation Report for NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)]

NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)

Genes:
PINK1-AS:PINK1 antisense RNA [Gene - HGNC]
PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)
HGVS:
  • NC_000001.11:g.20644648G>A
  • NG_008164.1:g.16194G>A
  • NM_032409.3:c.935G>AMANE SELECT
  • NP_115785.1:p.Arg312Gln
  • NC_000001.10:g.20971141G>A
  • NM_032409.2:c.935G>A
Protein change:
R312Q
Links:
dbSNP: rs202128685
NCBI 1000 Genomes Browser:
rs202128685
Molecular consequence:
  • NM_032409.3:c.935G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229843Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Dec 9, 2022) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1.

Hayashida A, Li Y, Yoshino H, Daida K, Ikeda A, Ogaki K, Fuse A, Mori A, Takanashi M, Nakahara T, Yoritaka A, Tomizawa Y, Furukawa Y, Kanai K, Nakayama Y, Ito H, Ogino M, Hattori Y, Hattori T, Ichinose Y, Takiyama Y, Saito T, et al.

Neurobiol Aging. 2021 Jan;97:146.e1-146.e13. doi: 10.1016/j.neurobiolaging.2020.06.017. Epub 2020 Jul 2.

PubMed [citation]
PMID:
32713623

Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.

Milanowski ŁM, Lindemann JA, Hoffman-Zacharska D, Soto-Beasley AI, Barcikowska M, Boczarska-Jedynak M, Deutschlander A, Kłodowska G, Dulski J, Fedoryshyn L, Friedman A, Jamrozik Z, Janik P, Karpinsky K, Koziorowski D, Krygowska-Wajs A, Jasińska-Myga B, Opala G, Potulska-Chromik A, Pulyk A, Rektorova I, Sanotsky Y, et al.

Parkinsonism Relat Disord. 2021 May;86:48-51. doi: 10.1016/j.parkreldis.2021.03.026. Epub 2021 Apr 2.

PubMed [citation]
PMID:
33845304
PMCID:
PMC8192481
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV004229843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. The variant is located in a region that is considered important for protein function and/or structure.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024